The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease

被引:45
作者
Mellick, GD [1 ]
Silburn, PA
机构
[1] Univ Queensland, Princess Alexandra Hosp, Dept Med, Woolloongabba, Qld 4102, Australia
[2] Univ Queensland, Princess Alexandra Hosp, Dept Neurol, Woolloongabba, Qld 4102, Australia
关键词
Parkinson's disease; ubiquitin-carboxy-terminal-hydrolase-L1; genetics; allele association study; polymorphism;
D O I
10.1016/S0304-3940(00)01510-X
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
The ubiquitin carboxy-terminal hydrolase L1 gene (UCH-L1) has been implicated in the aetiology of Parkinson's disease (PD). A rare Ile93Met mutation in UCH-L1 in a German PD sib-pair has been reported. Recently, a S18Y(C54A) polymorphism in exon 3 of UCH-L1 was found to be under-represented in PD patients compared to controls. To test the reproducibility of this negative association, we conducted an allele-association study of the S18Y polymorphism in an Australian case-control sample consisting of 142 PD cases and 142 closely matched control subjects. Genotypes were determined using polymerase chain reaction and Rsal restriction enzyme assay. Analysis revealed no difference between PD patients and controls for genotype or allele frequencies of the S18Y polymorphism. The of the S18Y allele in Australian subjects is similar to that reported elsewhere. This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:127 / 130
页数:4
相关论文
共 14 条
[1]  
[Anonymous], ANN NEUROL S
[2]   A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor [J].
Farrer, M ;
Gwinn-Hardy, K ;
Muenter, M ;
DeVrieze, FW ;
Crook, R ;
Perez-Tur, J ;
Lincoln, S ;
Maraganore, D ;
Adler, C ;
Newman, S ;
MacElwee, K ;
McCarthy, P ;
Miller, C ;
Waters, C ;
Hardy, J .
HUMAN MOLECULAR GENETICS, 1999, 8 (01) :81-85
[3]   A susceptibility locus for Parkinson's disease maps to chromosome 2p13 [J].
Gasser, T ;
Müller-Myhsok, B ;
Wszolek, ZK ;
Oehlmann, R ;
Calne, DB ;
Bonifati, V ;
Bereznai, B ;
Fabrizio, E ;
Vieregge, P ;
Horstmann, RD .
NATURE GENETICS, 1998, 18 (03) :262-265
[4]   The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease [J].
Harhangi, BS ;
Farrer, MJ ;
Lincoln, S ;
Bonifati, V ;
Meco, G ;
De Michele, G ;
Brice, A ;
Dürr, A ;
Martinez, M ;
Gasser, T ;
Bereznai, B ;
Vaughan, JR ;
Wood, NW ;
Hardy, J ;
Oostra, BA ;
Breteler, MMB .
NEUROSCIENCE LETTERS, 1999, 270 (01) :1-4
[5]   THE DEMONSTRATION OF NEW HUMAN BRAIN-SPECIFIC PROTEINS BY HIGH-RESOLUTION TWO-DIMENSIONAL POLYACRYLAMIDE-GEL ELECTROPHORESIS [J].
JACKSON, P ;
THOMPSON, RJ .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1981, 49 (03) :429-438
[6]   The ubiquitin pathway in Parkinson's disease [J].
Leroy, E ;
Boyer, R ;
Auburger, G ;
Leube, B ;
Ulm, G ;
Mezey, E ;
Harta, G ;
Brownstein, MJ ;
Jonnalagada, S ;
Chernova, T ;
Dehejia, A ;
Lavedan, C ;
Gasser, T ;
Steinbach, PJ ;
Wilkinson, KD ;
Polymeropoulos, MH .
NATURE, 1998, 395 (6701) :451-452
[7]   Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease [J].
Lincoln, S ;
Vaughan, J ;
Wood, N ;
Baker, M ;
Adamson, J ;
Gwinn-Hardy, K ;
Lynch, T ;
Hardy, J ;
Farrer, M .
NEUROREPORT, 1999, 10 (02) :427-429
[8]   UBIQUITIN CONJUGATE IMMUNOREACTIVITY IN THE BRAINS OF SCRAPIE INFECTED MICE [J].
LOWE, J ;
MCDERMOTT, H ;
KENWARD, N ;
LANDON, M ;
MAYER, RJ ;
BRUCE, M ;
MCBRIDE, P ;
SOMERVILLE, RA ;
HOPE, J .
JOURNAL OF PATHOLOGY, 1990, 162 (01) :61-66
[9]   Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease [J].
Maraganore, DM ;
Farrer, MJ ;
Hardy, JA ;
Lincoln, SJ ;
McDonnell, SK ;
Rocca, WA .
NEUROLOGY, 1999, 53 (08) :1858-1860
[10]   The monoamine oxidase B gene GT repeat polymorphism and Parkinson's disease in a Chinese population [J].
Mellick, GD ;
Buchanan, DD ;
Silburn, PA ;
Chan, DKY ;
Le Couteur, DG ;
Law, LK ;
Woo, J ;
Pang, CP .
JOURNAL OF NEUROLOGY, 2000, 247 (01) :52-55